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目的评价羊水细胞培养染色体核型分析与荧光原位杂交技术在产前诊断中的应用价值。方法对妊娠中期要求产前诊断的孕妇行羊膜腔穿刺术,分别进行细胞培养染色体核型分析和FISH检测。结果羊水细胞成功培养并分析的2425例,检出染色体异常69例,包括21-三体46例,18-三体4例,性染色体异常5例,结构异常2例,嵌合体11例,三倍体1例。FISH检测1315例,检测成功率100%。结论产前筛查和产前诊断是防止染色体异常患儿出生的有效手段,对于减少出生缺陷,提高人口素质有重要意义。FISH用于产前诊断具有快速、准确、特异性高等特点,是对传统的临床细胞学诊断的有力补充。
Objective To evaluate the value of karyotype analysis of amniotic fluid cell culture and fluorescence in situ hybridization in prenatal diagnosis. Methods Amniocentesis was performed on prenatal diagnosis of pregnant women during the second trimester of pregnancy. The karyotype analysis and FISH of the cells were performed respectively. Results A total of 2425 cases of amniotic fluid cells were successfully cultured and analyzed. There were 69 cases of chromosomal abnormalities including 46 cases of 21-trisomy, 4 cases of 18-trisomy, 5 cases of sex chromosome abnormalities, 2 cases of structural abnormalities, 11 cases of chimerism, 1 case of ploidy. FISH 1315 cases detected, the detection rate of 100% success. Conclusion Prenatal screening and prenatal diagnosis are effective measures to prevent the birth of children with chromosomal abnormalities and are of great significance for reducing birth defects and improving the population quality. FISH for prenatal diagnosis with fast, accurate, high specificity, is a powerful complement to the traditional clinical cytology.